A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv129e214



Internal ID20121552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50994861..50998312hg38UCSC Ensembl
chr10:52754621..52758072hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3623223, esv3623222
SamplesHG03565, HG02462
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv129e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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